ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5892T>C (p.Asn1964=)

gnomAD frequency: 0.00011  dbSNP: rs201983595
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825094 SCV000966348 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asn1964Asn in Exon 28 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 2/6656 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS).
Invitae RCV001430975 SCV001633725 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001430975 SCV004034438 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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